ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1426del (p.Arg476fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785989 SCV005402373 likely pathogenic Wilms tumor 1 2024-06-03 criteria provided, single submitter clinical testing The WT1 c.1375del (p.Arg459GlyfsTer26) change deletes 1 nucleotide in exon 8 of the WT1 gene to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause premature protein truncation. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant has been reported in an individual with bilateral Wilms tumor (internal data). In summary, this variant meets criteria to be classified as likely pathogenic.

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